von Koskull H - Search Results

1

Rearrangements in the flanking sequences of the triplet repeat of the FMR1 gene give clues to the mechanisms involved in repeat instability in fragile X.

Mononen T, von Koskull H, Airaksinen RL, Juvonen V. Mononen T, et al. Among authors: von koskull h. DNA Repair (Amst). 2008 May 3;7(5):684-5. doi: 10.1016/j.dnarep.2008.01.015. Epub 2008 Mar 11. DNA Repair (Amst). 2008. PMID: 18337192 No abstract available.

2

A novel duplication in the FMR1 gene: implications for molecular analysis in fragile X syndrome and repeat instability.

Mononen T, von Koskull H, Airaksinen RL, Juvonen V. Mononen T, et al. Among authors: von koskull h. Clin Genet. 2007 Dec;72(6):528-31. doi: 10.1111/j.1399-0004.2007.00903.x. Epub 2007 Oct 7. Clin Genet. 2007. PMID: 17922850

3

Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles.

Nolin SL, Brown WT, Glicksman A, Houck GE Jr, Gargano AD, Sullivan A, Biancalana V, Bröndum-Nielsen K, Hjalgrim H, Holinski-Feder E, Kooy F, Longshore J, Macpherson J, Mandel JL, Matthijs G, Rousseau F, Steinbach P, Väisänen ML, von Koskull H, Sherman SL. Nolin SL, et al. Among authors: von koskull h. Am J Hum Genet. 2003 Feb;72(2):454-64. doi: 10.1086/367713. Epub 2003 Jan 14. Am J Hum Genet. 2003. PMID: 12529854 Free PMC article.

4

Finnish Fanconi anemia mutations and hereditary predisposition to breast and prostate cancer.

Mantere T, Haanpää M, Hanenberg H, Schleutker J, Kallioniemi A, Kähkönen M, Parto K, Avela K, Aittomäki K, von Koskull H, Hartikainen JM, Kosma VM, Laasanen SL, Mannermaa A, Pylkäs K, Winqvist R. Mantere T, et al. Among authors: von koskull h. Clin Genet. 2015 Jul;88(1):68-73. doi: 10.1111/cge.12447. Epub 2014 Jul 30. Clin Genet. 2015. PMID: 24989076

5

Prenatal diagnosis and carrier detection in fragile X.

von Koskull H, Nordström AM, Salonen R, Peltonen L. von Koskull H, et al. Am J Med Genet. 1992 Apr 15-May 1;43(1-2):174-80. doi: 10.1002/ajmg.1320430129. Am J Med Genet. 1992. PMID: 1605189

6

FRAXA locus in fragile X diagnosis: family studies, prenatal diagnosis, and diagnosis of sporadic cases of mental retardation.

von Koskull H, Gahmberg N, Salonen R, Salo A, Peippo M. von Koskull H, et al. Am J Med Genet. 1994 Jul 15;51(4):486-9. doi: 10.1002/ajmg.1320510438. Am J Med Genet. 1994. PMID: 7943025

7

Molecular cytogenetic study of patients with Pallister-Killian syndrome.

Larramendy M, Heiskanen M, Wessman M, Ritvanen A, Peltomäki P, Simola K, Kääriäinen H, von Koskull H, Kähkönen M, Knuutila S. Larramendy M, et al. Among authors: von koskull h. Hum Genet. 1993 Mar;91(2):121-7. doi: 10.1007/BF00222711. Hum Genet. 1993. PMID: 8462971 Free article.

8

Striking founder effect for the fragile X syndrome in Finland.

Oudet C, von Koskull H, Nordström AM, Peippo M, Mandel JL. Oudet C, et al. Among authors: von koskull h. Eur J Hum Genet. 1993;1(3):181-9. doi: 10.1159/000472412. Eur J Hum Genet. 1993. PMID: 8044645

9

MECP2 mutation analysis in patients with mental retardation.

Ylisaukko-Oja T, Rehnström K, Vanhala R, Kempas E, von Koskull H, Tengström C, Mustonen A, Ounap K, Lähdetie J, Järvelä I. Ylisaukko-Oja T, et al. Among authors: von koskull h. Am J Med Genet A. 2005 Jan 15;132A(2):121-4. doi: 10.1002/ajmg.a.30416. Am J Med Genet A. 2005. PMID: 15578581

10

Further evidence for a relationship between the 5p15 chromosome region and the oculoauriculovertebral anomaly.

Ala-Mello S, Siggberg L, Knuutila S, von Koskull H, Taskinen M, Peippo M. Ala-Mello S, et al. Among authors: von koskull h. Am J Med Genet A. 2008 Oct 1;146A(19):2490-4. doi: 10.1002/ajmg.a.32479. Am J Med Genet A. 2008. PMID: 18792983

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